Publications:

---

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

Jama Neurology

Khoshkhoo, Sattar S; Wang, Yilan Y; Chahine, Yasmine Y; Erson-Omay, E Zeynep EZ; Robert, Stephanie M SM; Kiziltug, Emre E; Damisah, Eyiyemisi C EC; Nelson-Williams, Carol C; Zhu, Guangya G; Kong, Wenna W; Huang, August Yue AY; Stronge, Edward E; Phillips, H Westley HW; Chhouk, Brian H BH; Bizzotto, Sara S; Chen, Ming Hui MH; Adikari, Thiuni N TN; Ye, Zimeng Z; Witkowski, Tom T; Lai, Dulcie D; Lee, Nadine N; Lokan, Julie J; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Haider, Shozeb S; Hildebrand, Michael S MS; Yang, Edward E; Gunel, Murat M; Lifton, Richard P RP; Richardson, R Mark RM; Blümcke, Ingmar I; Alexandrescu, Sanda S; Huttner, Anita A; Heinzen, Erin L EL; Zhu, Jidong J; Poduri, Annapurna A; DeLanerolle, Nihal N; Spencer, Dennis D DD; Lee, Eunjung Alice EA; Walsh, Christopher A CA; Kahle, Kristopher T KT

Publication Date: 2023-05-01

Variant appearance in text: NF1: 6904C>T; Q2302*

PubMed Link: 37126322

Variant Present in the following documents:

• Main text
• jamaneurol-e230473.pdf

View BVdb publication page

---

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: NF1: 6904C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

---

Genetic profiling of human bone marrow mesenchymal stromal cells after in vitro expansion in clinical grade human platelet lysate.

Frontiers In Bioengineering And Biotechnology

De Becker, Ann A; Heestermans, Robbe R; De Brouwer, Wouter W; Bockstaele, Kara K; Maes, Ken K; Van Riet, Ivan I

Publication Date: 2022

Variant appearance in text: NF1: 6904C>T; Gln2302*

PubMed Link: 36324892

Variant Present in the following documents:

• fbioe-10-1008271.pdf

View BVdb publication page

---

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: NF1: Q2302*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

---

Is There an Independent Role of TERT and NF1 in High Grade Gliomas?

Translational Oncology

Razis, Evangelia E; Kotoula, Vassiliki V; Koliou, Georgia-Angeliki GA; Papadopoulou, Kyriaki K; Vrettou, Eleni E; Giannoulatou, Eleni E; Tikas, Ioannis I; Labropoulos, Stefanos V SV; Rigakos, Georgios G; Papaemmanoyil, Styliani S; Romanidou, Ourania O; Bourkoula, Eugenia E; Nomikos, Panagiotis P; Iliadis, Georgios G; Nasioulas, George G; Selviaridis, Panagiotis P; Polyzoidis, Konstantinos K; Fountzilas, George G

Publication Date: 2020-02

Variant appearance in text: NF1: Gln2302Ter

PubMed Link: 31891871

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers

Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K

Publication Date: 2014-11

Variant appearance in text: NF1: 6904C>T

PubMed Link: 25325900

Variant Present in the following documents:

• Main text

View BVdb publication page

---